Results 121 to 130 of about 1,478,183 (195)

Mucopolisacaridosis (síndrome de Hunter)

Revista Cubana de Medicina Militar
Se realiza una presentación de un caso interesante, no comúnmente visto en la práctica médica, de unos de los tipos de mucopolisacaridosis, específicamente de un síndrome de Hunter. Se hace esta presentación con el objetivo de dar a conocer a estudiantes
Xidix Toirac Cabrera, Luis Corvea Hernández   +1 more
doaj  

The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome. [PDF]

Arq Neuropsiquiatr
Sheikh M, Thein I, Abrams KJ, Freitas LF.   +3 more
europepmc   +1 more source

Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis. [PDF]

J Audiol Otol, 2021
Kim H, An JY, Choo OS, Jang JH, Park HY, Choung YH.   +5 more
europepmc   +1 more source

Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome. [PDF]

EMBO Mol Med
Catalano F, Stevic D, Zundo G, Huizer TF, Dammou Z, Vlaar EC, Katsavelis D, van den Bosch JC, van den Hout HJMP, Oussoren E, van der Ploeg AT, Ruijter GJG, Schaaf G, Pijnappel WWMP.   +13 more
europepmc   +1 more source

Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction. [PDF]

J Cardiol Cases, 2022
Mori N, Kitahara H, Muramatsu T, Matsuura K, Nakayama T, Matsumiya G, Kobayashi Y.   +6 more
europepmc   +1 more source

Bow-Hunter Syndrome Due to Tandem Lesions; A Case Report. [PDF]

Asian J Neurosurg
Yokoya S, Nakauchi J, Takezawa H.
europepmc   +1 more source

Posterior segment findings in Hunter Syndrome: Case report and review. [PDF]

Am J Ophthalmol Case Rep
Majmudar IP, Ismail HO, Dang S, Gill MK.
europepmc   +1 more source

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? [PDF]

Clin Dysmorphol, 2021
Jezela-Stanek A, Pokora P, Młynek M, Smyk M, Ziemkiewicz K, Różdżyńska-Świątkowska A, Tylki-Szymańska A.   +6 more
europepmc   +1 more source

Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature. [PDF]

Am J Case Rep
Wang S, Bi Y, Chen Y.
europepmc   +1 more source

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]

Hum Genomics
Zanetti A, D'Avanzo F, Tomanin R.
europepmc   +1 more source